SNP Links for Gene (Select 90673) - SNP

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Select item 14914518251.

rs1491451825 has merged into rs60567462 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 14:23303500 (GRCh38)
14:23772709 (GRCh37)
Canonical SPDI:: NC_000014.9:23303486:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTG,NC_000014.9:23303486:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000014.9:23303486:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000014.9:23303486:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000014.9:23303486:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000014.9:23303486:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:23303486:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:23303486:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:23303486:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:23303486:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:23303486:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:23303486:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:23303486:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:23303486:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:23303486:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:23303486:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:23303486:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:23303486:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:23303486:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:23303486:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: PPP1R3E (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTG=0./0 (ALFA)
-=0.2917/1461 (1000Genomes)
HGVS:: NC_000014.9:g.23303488TG[6], NC_000014.9:g.23303488TG[7], NC_000014.9:g.23303488TG[8], NC_000014.9:g.23303488TG[9], NC_000014.9:g.23303488TG[10], NC_000014.9:g.23303488TG[11], NC_000014.9:g.23303488TG[12], NC_000014.9:g.23303488TG[13], NC_000014.9:g.23303488TG[15], NC_000014.9:g.23303488TG[16], NC_000014.9:g.23303488TG[17], NC_000014.9:g.23303488TG[18], NC_000014.9:g.23303488TG[19], NC_000014.9:g.23303488TG[20], NC_000014.9:g.23303488TG[21], NC_000014.9:g.23303488TG[22], NC_000014.9:g.23303488TG[23], NC_000014.9:g.23303488TG[24], NC_000014.9:g.23303488TG[25], NC_000014.9:g.23303488TG[26], NC_000014.8:g.23772697TG[6], NC_000014.8:g.23772697TG[7], NC_000014.8:g.23772697TG[8], NC_000014.8:g.23772697TG[9], NC_000014.8:g.23772697TG[10], NC_000014.8:g.23772697TG[11], NC_000014.8:g.23772697TG[12], NC_000014.8:g.23772697TG[13], NC_000014.8:g.23772697TG[15], NC_000014.8:g.23772697TG[16], NC_000014.8:g.23772697TG[17], NC_000014.8:g.23772697TG[18], NC_000014.8:g.23772697TG[19], NC_000014.8:g.23772697TG[20], NC_000014.8:g.23772697TG[21], NC_000014.8:g.23772697TG[22], NC_000014.8:g.23772697TG[23], NC_000014.8:g.23772697TG[24], NC_000014.8:g.23772697TG[25], NC_000014.8:g.23772697TG[26]

Select item 14914359222.

rs1491435922 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 14:23299928 (GRCh38)
14:23769138 (GRCh37)
Canonical SPDI:: NC_000014.9:23299928::G
Gene:: PPP1R3E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00008/1 (ALFA)
HGVS:: NC_000014.9:g.23299928_23299929insG, NC_000014.8:g.23769137_23769138insG

Select item 14912509233.

rs1491250923 has merged into rs3079707 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTAACTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTGAATTTATTTGTTTGATTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:23299938 (GRCh38)
14:23769147 (GRCh37)
Canonical SPDI:: NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTAACTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAATTTATTTGTTTGATTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:23299927:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PPP1R3E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0./0 (GENOME_DK)
HGVS:: NC_000014.9:g.23299938_23299949del, NC_000014.9:g.23299940_23299949del, NC_000014.9:g.23299941_23299949del, NC_000014.9:g.23299942_23299949del, NC_000014.9:g.23299943_23299949del, NC_000014.9:g.23299944_23299949del, NC_000014.9:g.23299945_23299949del, NC_000014.9:g.23299946_23299949del, NC_000014.9:g.23299947_23299949del, NC_000014.9:g.23299948_23299949del, NC_000014.9:g.23299949del, NC_000014.9:g.23299949dup, NC_000014.9:g.23299948_23299949dup, NC_000014.9:g.23299947_23299949dup, NC_000014.9:g.23299946_23299949dup, NC_000014.9:g.23299945_23299949dup, NC_000014.9:g.23299944_23299949dup, NC_000014.9:g.23299928_23299949T[28]AACTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.9:g.23299943_23299949dup, NC_000014.9:g.23299942_23299949dup, NC_000014.9:g.23299941_23299949dup, NC_000014.9:g.23299940_23299949dup, NC_000014.9:g.23299939_23299949dup, NC_000014.9:g.23299928_23299949T[33]GAATTTATTTGTTTGATTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.9:g.23299938_23299949dup, NC_000014.9:g.23299937_23299949dup, NC_000014.9:g.23299936_23299949dup, NC_000014.9:g.23299928_23299949T[36]GTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.9:g.23299935_23299949dup, NC_000014.9:g.23299934_23299949dup, NC_000014.9:g.23299933_23299949dup, NC_000014.9:g.23299932_23299949dup, NC_000014.9:g.23299931_23299949dup, NC_000014.9:g.23299930_23299949dup, NC_000014.9:g.23299929_23299949dup, NC_000014.9:g.23299928_23299949dup, NC_000014.9:g.23299949_23299950insTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.23299949_23299950insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.23299949_23299950insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.23299949_23299950insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.23299949_23299950insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.23299949_23299950insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.23299949_23299950insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.23299949_23299950insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.23769147_23769158del, NC_000014.8:g.23769149_23769158del, NC_000014.8:g.23769150_23769158del, NC_000014.8:g.23769151_23769158del, NC_000014.8:g.23769152_23769158del, NC_000014.8:g.23769153_23769158del, NC_000014.8:g.23769154_23769158del, NC_000014.8:g.23769155_23769158del, NC_000014.8:g.23769156_23769158del, NC_000014.8:g.23769157_23769158del, NC_000014.8:g.23769158del, NC_000014.8:g.23769158dup, NC_000014.8:g.23769157_23769158dup, NC_000014.8:g.23769156_23769158dup, NC_000014.8:g.23769155_23769158dup, NC_000014.8:g.23769154_23769158dup, NC_000014.8:g.23769153_23769158dup, NC_000014.8:g.23769137_23769158T[28]AACTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.8:g.23769152_23769158dup, NC_000014.8:g.23769151_23769158dup, NC_000014.8:g.23769150_23769158dup, NC_000014.8:g.23769149_23769158dup, NC_000014.8:g.23769148_23769158dup, NC_000014.8:g.23769137_23769158T[33]GAATTTATTTGTTTGATTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.8:g.23769147_23769158dup, NC_000014.8:g.23769146_23769158dup, NC_000014.8:g.23769145_23769158dup, NC_000014.8:g.23769137_23769158T[36]GTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.8:g.23769144_23769158dup, NC_000014.8:g.23769143_23769158dup, NC_000014.8:g.23769142_23769158dup, NC_000014.8:g.23769141_23769158dup, NC_000014.8:g.23769140_23769158dup, NC_000014.8:g.23769139_23769158dup, NC_000014.8:g.23769138_23769158dup, NC_000014.8:g.23769137_23769158dup, NC_000014.8:g.23769158_23769159insTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.23769158_23769159insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.23769158_23769159insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.23769158_23769159insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.23769158_23769159insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.23769158_23769159insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.23769158_23769159insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.23769158_23769159insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14904659774.

rs1490465977 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 14:23304504 (GRCh38)
14:23773713 (GRCh37)
Canonical SPDI:: NC_000014.9:23304503:A:G,NC_000014.9:23304503:A:T
Gene:: PPP1R3E (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.23304504A>G, NC_000014.9:g.23304504A>T, NC_000014.8:g.23773713A>G, NC_000014.8:g.23773713A>T

Select item 14902314725.

rs1490231472 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAT>- [Show Flanks]
Chromosome:: 14:23304519 (GRCh38)
14:23773728 (GRCh37)
Canonical SPDI:: NC_000014.9:23304511:TTATTATTAT:TTATTAT
Gene:: PPP1R3E (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTATTAT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.23304513TAT[2], NC_000014.8:g.23773722TAT[2]

Select item 14899748086.

rs1489974808 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:23304030 (GRCh38)
14:23773239 (GRCh37)
Canonical SPDI:: NC_000014.9:23304029:C:T
Gene:: PPP1R3E (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000014.9:g.23304030C>T, NC_000014.8:g.23773239C>T

Select item 14896626177.

rs1489662617 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:23298049 (GRCh38)
14:23767258 (GRCh37)
Canonical SPDI:: NC_000014.9:23298048:G:A
Gene:: PPP1R3E (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.23298049G>A, NC_000014.8:g.23767258G>A, NM_001276318.2:c.*1255C>T, NM_001276318.1:c.*1255C>T, NR_026862.1:n.2367C>T

Select item 14896301218.

rs1489630121 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:23297077 (GRCh38)
14:23766286 (GRCh37)
Canonical SPDI:: NC_000014.9:23297076:A:G
Gene:: PPP1R3E (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.23297077A>G, NC_000014.8:g.23766286A>G, NM_001276318.2:c.*2227T>C, NM_001276318.1:c.*2227T>C, NR_026862.1:n.3339T>C

Select item 14889772589.

rs1488977258 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:23296089 (GRCh38)
14:23765298 (GRCh37)
Canonical SPDI:: NC_000014.9:23296088:T:C
Gene:: PPP1R3E (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000014.9:g.23296089T>C, NC_000014.8:g.23765298T>C, NM_001276318.2:c.*3215A>G, NM_001276318.1:c.*3215A>G, NR_026862.1:n.4327A>G

Select item 148880104510.

rs1488801045 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:23301652 (GRCh38)
14:23770861 (GRCh37)
Canonical SPDI:: NC_000014.9:23301651:G:C
Gene:: PPP1R3E (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.23301652G>C, NC_000014.8:g.23770861G>C, NM_001276318.2:c.624C>G, NM_001276318.1:c.624C>G, NR_026862.1:n.896C>G, NP_001263247.1:p.Tyr208Ter

Select item 148850571111.

rs1488505711 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:23299809 (GRCh38)
14:23769018 (GRCh37)
Canonical SPDI:: NC_000014.9:23299808:T:C
Gene:: PPP1R3E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.23299809T>C, NC_000014.8:g.23769018T>C

Select item 148847160012.

rs1488471600 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:23302004 (GRCh38)
14:23771213 (GRCh37)
Canonical SPDI:: NC_000014.9:23302003:C:T
Gene:: PPP1R3E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000014.9:g.23302004C>T, NC_000014.8:g.23771213C>T

Select item 148814290913.

rs1488142909 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 14:23301726 (GRCh38)
14:23770935 (GRCh37)
Canonical SPDI:: NC_000014.9:23301725:C:G,NC_000014.9:23301725:C:T
Gene:: PPP1R3E (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000014.9:g.23301726C>G, NC_000014.9:g.23301726C>T, NC_000014.8:g.23770935C>G, NC_000014.8:g.23770935C>T, NM_001276318.2:c.550G>C, NM_001276318.2:c.550G>A, NM_001276318.1:c.550G>C, NM_001276318.1:c.550G>A, NR_026862.1:n.822G>C, NR_026862.1:n.822G>A, NP_001263247.1:p.Ala184Pro, NP_001263247.1:p.Ala184Thr

Select item 148799109614.

rs1487991096 has merged into rs959904674 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AAAA,AAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 14:23295529 (GRCh38)
14:23764738 (GRCh37)
Canonical SPDI:: NC_000014.9:23295523:AAAAAAAAAAA:AAAAA,NC_000014.9:23295523:AAAAAAAAAAA:AAAAAAAAA,NC_000014.9:23295523:AAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:23295523:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:23295523:AAAAAAAAAAA:AAAAAAAAAAAAA
Gene:: PPP1R3E (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000014.9:g.23295529_23295534del, NC_000014.9:g.23295533_23295534del, NC_000014.9:g.23295534del, NC_000014.9:g.23295534dup, NC_000014.9:g.23295533_23295534dup, NC_000014.8:g.23764738_23764743del, NC_000014.8:g.23764742_23764743del, NC_000014.8:g.23764743del, NC_000014.8:g.23764743dup, NC_000014.8:g.23764742_23764743dup, NG_006445.3:g.1106_1111del, NG_006445.3:g.1110_1111del, NG_006445.3:g.1111del, NG_006445.3:g.1111dup, NG_006445.3:g.1110_1111dup

Select item 148776741015.

rs1487767410 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:23303132 (GRCh38)
14:23772341 (GRCh37)
Canonical SPDI:: NC_000014.9:23303131:A:G
Gene:: PPP1R3E (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.23303132A>G, NC_000014.8:g.23772341A>G

Select item 148741695816.

rs1487416958 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 14:23299931 (GRCh38)
14:23769141 (GRCh37)
Canonical SPDI:: NC_000014.9:23299931::G
Gene:: PPP1R3E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00034/4 (ALFA)
G=0.00029/28 (GnomAD)
HGVS:: NC_000014.9:g.23299931_23299932insG, NC_000014.8:g.23769140_23769141insG

Select item 148648359217.

rs1486483592 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:23301894 (GRCh38)
14:23771103 (GRCh37)
Canonical SPDI:: NC_000014.9:23301893:G:A,NC_000014.9:23301893:G:C
Gene:: PPP1R3E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.23301894G>A, NC_000014.9:g.23301894G>C, NC_000014.8:g.23771103G>A, NC_000014.8:g.23771103G>C

Select item 148626887118.

rs1486268871 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:23301644 (GRCh38)
14:23770853 (GRCh37)
Canonical SPDI:: NC_000014.9:23301643:G:A,NC_000014.9:23301643:G:T
Gene:: PPP1R3E (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.23301644G>A, NC_000014.9:g.23301644G>T, NC_000014.8:g.23770853G>A, NC_000014.8:g.23770853G>T, NM_001276318.2:c.632C>T, NM_001276318.2:c.632C>A, NM_001276318.1:c.632C>T, NM_001276318.1:c.632C>A, NR_026862.1:n.904C>T, NR_026862.1:n.904C>A, NP_001263247.1:p.Pro211Leu, NP_001263247.1:p.Pro211Gln

Select item 148615609619.

rs1486156096 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 14:23302492 (GRCh38)
14:23771701 (GRCh37)
Canonical SPDI:: NC_000014.9:23302491:T:
Gene:: PPP1R3E (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000142/2 (TOMMO)
HGVS:: NC_000014.9:g.23302492del, NC_000014.8:g.23771701del, NM_001276318.2:c.85del, NM_001276318.1:c.85del, NR_026862.1:n.357del, NP_001263247.1:p.Ser29fs

Select item 148579557820.

rs1485795578 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:23297788 (GRCh38)
14:23766997 (GRCh37)
Canonical SPDI:: NC_000014.9:23297787:A:G
Gene:: PPP1R3E (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.23297788A>G, NC_000014.8:g.23766997A>G, NM_001276318.2:c.*1516T>C, NM_001276318.1:c.*1516T>C, NR_026862.1:n.2628T>C

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